×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1699738892
Gene:
Linked Data
dbSNP Id:
rs1783968355
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.35570518del , CM000669.2:g.35570518del
GRCh38
NC_000007.13:g.35610128del , CM000669.1:g.35610128del
GRCh37
NC_000007.12:g.35576653del
NCBI36
Search 100 bp 5'
Search 100 bp 3'